Author
Terho J. Lehtimäki
Tampere UniversityORCID 0000-0002-2555-4427Unclaimed ORCID profile · follow to get notified of new preprints
Biology Disciplines
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2017-2026 · peak 9/yrCo-Author Collaboration Network
10 top collaborators · 44 mutual co-author links36 papers
Recent·Most cited
- Molecular BiologybioRxivPreprintDOI 10.64898/2026.10.26.761759
- Molecular BiologyAging CellPeer-reviewed
Traditional disease risk factors outperform epigenetic clocks as predictors of non-communicable disease morbidity in a middle-aged cohort
Daria Kostiniuk, Flóra Székely, Leo‐Pekka Lyytikäinen…·Saara Marttila
This study compares traditional risk factors and epigenetic clocks in predicting non-communicable disease morbidity and finds traditional factors perform better in a middle-aged cohort.
DOI 10.1111/acel.70626 - NeurosciencebioRxivPreprint
Multi-modal choroid plexus pathology in aging and Alzheimer's disease
Huixin Xu, Peter Lotfy, Benjamin Englert…·Maria K. Lehtinen
This study creates a multi-modal atlas of choroid plexus pathology across aging and Alzheimer's disease, identifying fibrosis, calcification, and macrophage abnormalities as key features.
- PhysiologybioRxivPreprint
Suppression of non-canonical autophagy induces endothelial and cardiac dysfunction
Joëlle Magné, Suresh Poudel, Rona J. Strawbridge…·Douglas R. Green
This study shows that disrupting non-canonical autophagy (LANDO) impairs endothelial and cardiac function by disrupting VEGFR2 recycling and Hb- expression.
DOI 10.64898/2025.12.17.695030 - Genetic & Genomic MedicineNature CommunicationsPeer-reviewed
Trans-eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locus
Krista Freimann, Anneke Brümmer, Robert Warmerdam…·Suvi Rovio
The paper identifies USP18 as a negative regulator of interferon response at a lupus risk locus through trans-eQTL analysis in lymphoblastoid cell lines.
9 citations - GenomicsbioRxivPreprint
Robust inference and widespread genetic correlates from a large-scale genetic association study of human personality
Ted Schwaba, Margaret L. Clapp Sullivan, Wonuola A. Akingbuwa…·Aino I. L. Saarinen
This study identifies 1,257 genetic variants associated with human personality traits using large-scale GWAS and finds widespread genetic correlations with behaviors and life outcomes.
17 citations - Genetic & Genomic MedicinemedRxivPreprint
Genetic risk score for coronary artery calcification predicts coronary artery disease beyond traditional risk factors
Pashupati Prasad Mishra, Binisha Hamal Mishra, Leo‐Pekka Lyytikäinen…·Terho J. Lehtimäki
This study shows that a genetic risk score for coronary artery calcification improves CAD prediction beyond traditional risk factors in three European cohorts.
DOI 10.1101/2024.03.27.24304983 - GenomicsBiological PsychiatryPeer-reviewed
Genome-wide analyses of vocabulary size in infancy and toddlerhood: associations with Attention-Deficit/Hyperactivity Disorder and cognition-related traits
Ellen Verhoef, Andrea G. Allegrini, Philip R. Jansen…·Beate St. Pourcain
This study identifies genetic links between early vocabulary development and ADHD and cognition traits using genome-wide analyses.
16 citations - GeneticsNature CommunicationsPeer-reviewed
OTTERS: A powerful TWAS framework leveraging summary-level reference data
Qile Dai, Geyu Zhou, Hongyu Zhao…·Jingjing Yang
OTTERS is a TWAS framework that uses summary-level eQTL reference data to estimate eQTL weights and perform omnibus TWAS, showing improved power and applicability.
53 citationstop 1% - Genetic & Genomic MedicinemedRxivPreprint
Genome-wide characterization of circulating metabolic biomarkers reveals substantial pleiotropy and novel disease pathways
Minna K. Karjalainen, Savita Karthikeyan, Clare Oliver‐Williams…·Johannes Kettunen
This study identifies 400+ genetic loci associated with circulating metabolic traits and highlights pleiotropy and novel disease pathways.
3 citations - Molecular BiologybioRxivPreprint
Methylation status of VTRNA2-1/nc886 is stable across human populations, monozygotic twin pairs and in majority of somatic tissues
Saara Marttila, Hely Tamminen, Sonja Rajić…·Emma Raitoharju
The paper examines nc886 methylation across populations and tissues, finding stable levels except in specific tissues and some discordance in dizygotic twins.
1 citation - Genetic & Genomic MedicineJournal of Internal MedicinePeer-reviewed
BMI is positively associated with accelerated epigenetic aging in twin pairs discordant for BMI
Sara Lundgren, Sara Kuitunen, Kirsi Hannele Pietiläinen…·Miina Ollikainen
The paper examines the association between BMI and epigenetic aging in twin pairs, finding BMI increases are linked to accelerated epigenetic age using GrimAge.
78 citations - Genetic & Genomic MedicineNature GeneticsPeer-reviewed
Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles
Heidi M Hautakangas, Bendik Slagsvold Winsvold, Sanni Ruotsalainen…·Matti Pirinen
This GWAS identifies 123 migraine risk loci, including subtype-specific variants and novel targets, supporting neurovascular mechanisms in migraine.
400 citationstop 1% - GenomicsNature GeneticsPeer-reviewed
Unraveling the polygenic architecture of complex traits using blood eQTL meta-analysis
Urmo Võsa, Annique Claringbould, Harm-Jan Westra…·Bruce M. Psaty
The paper uses blood eQTL meta-analysis to explore the polygenic architecture of complex traits, finding that trans-eQTLs are more informative for identifying causal genes than cis-eQTLs.
2,608 citationstop 1% - Genetic & Genomic MedicinemedRxivPreprint
Genetic analyses on the health impacts of testosterone highlight effects on female-specific diseases and sex differences
Jaakko T. Leinonen, Nina Mars, Leevi E. Lehtonen…·Taru Tukiainen
This study uses genetic data to examine testosterone's effects on health, finding sex-specific impacts on female reproductive health and complex associations with disease risk.
- GeneticsCellPeer-reviewed
Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations
Ming‐Huei Chen, Laura M. Raffield, Abdou Mousas…·Ruth J. F. Loos
This study identifies 5,552 blood-cell trait-variant associations across 746,667 individuals from 5 global populations, including 71 novel loci and ancestry-specific variants not found in European ancestry populations.
661 citationstop 1% - Genetic & Genomic MedicineCellPeer-reviewed
The Polygenic and Monogenic Basis of Blood Traits and Diseases
Dragana Vuckovic, Erik L. Bao, Parsa Akbari…·Εvangelos Εvangelou
This study identifies 5,106 new genetic variants associated with blood cell traits using large-scale GWAS, highlighting the polygenic and monogenic basis of hematopoiesis.
670 citationstop 1% - GeneticsbioRxivPreprint
DNA methylation signatures of aggression and closely related constructs: A meta-analysis of epigenome-wide studies across the lifespan
Jenny van Dongen, Fiona A. Hagenbeek, Matthew J Suderman…·Dorret Irene Boomsma
This paper identifies DNA methylation sites associated with aggression through a meta-analysis of epigenome-wide studies across different age groups and tissues.
4 citations - GeneticsbioRxivPreprint
Genome-wide association studies identify 137 loci for DNA methylation biomarkers of ageing
Daniel L. McCartney, Josine L. Min, Rebecca Claire Richmond…·Jerome I. Rotter
This study identifies 137 genome-wide significant loci associated with DNA methylation biomarkers of ageing using DNAm and SNP data from over 41,000 individuals.
15 citations - GeneticsWellcome Open ResearchPeer-reviewed
SNPs associated with HHIP expression have differential effects on lung function in males and females
Katherine A. Fawcett, Ma’en Obeidat, Carl Melbourne…·Louise V. Wain
The paper identifies SNPs with sex-specific effects on lung function traits using UK Biobank data, finding a significant interaction at rs7697189 near HHIP.
12 citations - GeneticsPLoS BiologyPeer-reviewed
Lipoprotein Signatures of Cholesteryl Ester Transfer Protein and HMG-CoA Reductase Inhibition
Johannes Kettunen, Michael Vaclav Holmes, Elias Allara…·Mika Ala‐Korpela
The paper examines the effects of CETP and HMGCR genetic inhibition on lipoprotein profiles and CHD risk, finding distinct impacts on cholesterol and triglyceride compositions.
47 citationstop 1% - GenomicsThe American Journal of Human GeneticsPeer-reviewed
Multivariate genome-wide association analysis of a cytokine network reveals variants with widespread immune, haematological and cardiometabolic pleiotropy
Artika P. Nath, Scott C. Ritchie, Nastasiya F. Grinberg…·Michael Inouye
This study identifies genetic variants with pleiotropic effects on cytokines and related traits using a multivariate genome-wide association analysis.
47 citations - GeneticsbioRxivPreprint
Multi-ancestry GWAS of the electrocardiographic PR interval identifies 210 loci underlying cardiac conduction
Ιωάννα Ντάλλα, Lu-Chen C Weng, James Cartwright…·Dan M. Roden
This study identifies 210 genetic loci associated with the PR interval through multi-ancestry GWAS, highlighting their role in cardiac conduction and cardiovascular disease.
DOI 10.1101/712398 - GeneticsNature CommunicationsPeer-reviewed
Mendelian Randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits
Eleonora Porcu, Sina Rüeger, Kaido Lepik…·René Luijk
This paper introduces TWMR, a Mendelian Randomization method that identifies gene-trait associations by integrating GWAS and eQTL data, revealing 3,913 novel associations across 43 human phenotypes.
322 citationstop 1% - GeneticsJournal of Medical GeneticsPeer-reviewed
Genome-wide association study identifies seven novel loci associating with circulating cytokines and cell adhesion molecules in Finns
Eeva Sliz, Marita Kalaoja, Ari Ahola‐Olli…·Johannes Kettunen
This study identifies seven novel genetic loci associated with circulating cytokines and cell adhesion molecules in Finns through GWAS and meta-analysis.
60 citations - GenomicseLifePeer-reviewed
Genetic and environmental perturbations lead to regulatory decoherence
Amanda J. Lea, Meena Subramaniam, Arthur Ko…·Julien F. Ayroles
This study identifies genetic and environmental factors that disrupt trait correlations, showing environmental perturbations reduce correlations and genetic factors influence correlation patterns.
48 citations - GeneticsNature GeneticsPeer-reviewed
Expanded genetic landscape of chronic obstructive pulmonary disease reveals heterogeneous cell type and phenotype associations
Phuwanat Sakornsakolpat, Dmitry Prokopenko, Maxime Lamontagne…·Nicholas J. Wareham
This study expands the genetic landscape of COPD by identifying 82 risk loci, revealing associations with lung function, cell types, and comorbidities.
382 citationstop 1% - GenomicsNature GeneticsPeer-reviewed
New genetic signals for lung function highlight pathways and pleiotropy, and chronic obstructive pulmonary disease associations across multiple ancestries
Nick R. G. Shrine, Anna L. Guyatt, Abdullah Mesut Erzurumluoglu…·Andrew P. Morris
The paper identifies 279 new genetic signals for lung function across multiple ancestries, showing associations with COPD and pleiotropic effects.
539 citationstop 1% - GeneticsCellPeer-reviewed
Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
F. Kyle Satterstrom, Jack A. Kosmicki, Jiebiao Wang…·Kaija Puura
This study identifies 99 genes associated with autism spectrum disorder through large-scale exome sequencing, showing differences in mutation frequencies between ASD and severe neurodevelopmental delay groups.
2,321 citationstop 1% - GeneticsbioRxivPreprint
Genome-wide association and functional studies identify 46 novel loci for alcohol consumption and suggest common genetic mechanisms with neuropsychiatric disorders
Εvangelos Εvangelou, He Gao, Congying Chu…·Paul Elliott
This study identifies 46 novel genetic loci associated with alcohol consumption and suggests shared genetic mechanisms with neuropsychiatric disorders using GWAS and functional analyses.